ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29590G>C (p.Glu9864Gln)

dbSNP: rs776836480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840909 SCV000982855 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798989 SCV002042425 uncertain significance Cardiomyopathy 2020-09-04 criteria provided, single submitter clinical testing

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